HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169529739G>A , CM000663.2:g.169529739G>A | GRCh38 |
NC_000001.10:g.169498977G>A , CM000663.1:g.169498977G>A | GRCh37 |
NC_000001.9:g.167765601G>A | NCBI36 |
NG_011806.1:g.61793C>T , LRG_553:g.61793C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5288C>T MANE Select | ENSP00000356771.3:p.Pro1763Leu | |
ENST00000367796.3:c.5303C>T | ENSP00000356770.3:p.Pro1768Leu | |
ENST00000367797.7:c.5288C>T | ENSP00000356771.3:p.Pro1763Leu | |
NM_000130.4:c.5288C>T , LRG_553t1:c.5288C>T | NP_000121.2:p.Pro1763Leu | |
XM_017000660.2:c.4877C>T | XP_016856149.1:p.Pro1626Leu | |
NM_000130.5:c.5288C>T MANE Select | NP_000121.2:p.Pro1763Leu |